Curriculum Vitae - fondazione irccs istituto neurologico carlo besta
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Curriculum Vitae - fondazione irccs istituto neurologico carlo besta
Dr. Davide Tonduti Curriculum Vitae Dr. Davide Tonduti, MD Data di nascita 28 Aprile 1981, Milano Nazionalita’ Italiana Indirizzo Affiliazione primaria U.O. Neuropsichiatria Infantile, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milano, Italia Contatti Telefono: 02-23943043 E-Mail: [email protected] Lingue straniere Francese ottimo, Inglese ottimo Istruzione e Formazione Luglio 2000: Diploma di maturità classica votazione 85/100, Liceo C. Beccaria, Milano Settembre 2006 conseguita Laurea in Medicina e Chirurgia a pieni voti con tesi dal titolo “Implicazioni diagnostiche e terapeutiche dello studio dei metaboliti dei neurotrasmettitori e delle pterine liquorali nella patologia neurologica progressiva ad esordio infantile." Luglio 2012 conseguito Diploma di Specializzazione in Neuropsichiatria Infantile a pieni voti con tesi dal titolo “Stroke perinatale: caratteristiche cliniche e neuroradiologiche di un campione selezionato e risultati preliminari del progetto SVE-la sui fattori genetici predisponenti” Settembre 2013 conseguito Diploma InterUniversitario (DIU) in Malattie Ereditarie del Metabolismo, Université Paris Descartes (Paris 5) Dall’ottobre 2012 iscritto al Dottorato in Scienze Biomediche presso L’Università degli Studi di Pavia in cotutela con la Scuola di Dottorato C2iD in Genetica, Cellule, Immunologia, Infettivologia, Sviluppo dell’Università Paris Diderot (Paris 8) Esperienze professionali Posizione Organizzazione/dipartimento Paese Neuropsichiatra Infantile (Collaboratore Coordinato Continuativo) Frequentante Neuropsichiatra Infantile U.O. Neuropsichiatria Infantile, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Milano (Italia) Data di inizio-fine (mese/anno) 03/2014-03/2016 U.O. Neuropsichiatria Infantile, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Milano (Italia) 01/2014-02/2014 -1- Dr. Davide Tonduti Consulente Neuropsichiatra Infantile U.O. Neuropsichiatria Infantile, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Milano (Italia) 09/2013-12/2013 Ricercatore, Studente PhD Centro di referenza per le leucodistrofie, Servizio di Neurologia e Metabolismo, INSERM U676 Hôpital Robert Debré, Paris. Children's National Medical Center, Center for Genetic Medicine Research, White Matter Disorders Clinic Service de Médecine Néonatale de Port Royale – Paris Struttura complessa di Neuropsichiatria Infantile I. Neurologico Nazionale IRCCS Fondazione“C. Mondino” U.O. Neuropsichiatria Infantile, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Departmenti di Reumatologia; Endocrinologia; Cardiochirurgia. Hopital Pitié-Salpetrière Francia (Parigi) 08/2012-08/2013 USA (Washington, DC) 05/2011-12/2011 Francia (Parigi) 06/2009 Italia (Pavia) 07/2007-7/2012 Italia (Milano) 03/2005 – 06/2007 Francia (Parigi) 10/2003-07/2004 Specializzando in neuropsichiatria infantile Specializzando in neuropsichiatria infantile Specializzando in neuropsichiatria infantile) Studente universitario Studente universitario Publicazioni 1. Sagnelli A, Magri S, Farina L, Chiapparini L, Marotta G, Tonduti D, Consonni M, Scigliuolo GM, Benti R, Pareyson D, Taroni F, Salsano E, Di Bella D. Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings. J Neurol. 2016 Jan 25. [Epub ahead of print] No abstract available. 2. Sarret C, Lemaire JJ, Tonduti D, Sontheimer A, Coste J, Pereira B, Feschet F, Roche B, Boespflug-Tanguy O. Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders. Dev Med Child Neurol. 2016 Jan 19. doi: 10.1111/dmcn.13025. [Epub ahead of print] 3. Tonduti D, Ardissone A, Ceccherini I, Giaccone G, Farina L, Moroni I Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. Neurol Sci. 2016 Jan 7. [Epub ahead of print] 4. Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E TUBB4A-related hypomyelinating -2- Dr. Davide Tonduti leukodystrophy: New insights from a series of 12 patients. Eur J Paediatr Neurol. 2016 Mar;20(2):323-30. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. 5. La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18. 6. Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203 7. Tonduti D, Dorboz I, Renaldo F, Masliah-Planchon J, Elmaleh-Bergès M, Dalens H, Rodriguez D, Boespflug-Tanguy O. Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. Neurology. 2015 May 26;84(21):2195-7. doi: 10.1212/WNL.0000000000001607 8. Tonduti D, Zorzi G, Ghezzi D, Zibordi F, Garavaglia B, Nardocci N Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders. J Child Neurol. 2015 Apr 23. pii: 0883073815581608. 9. Tonduti D, Dorboz I, Imbard A, Slama A, Boutron A, Pichard S, Elmaleh M, Vallée L, Benoist J, Ogier H, Boespflug-Tanguy O. New spastic paraplegia phenotype associated to mutation of NFU1. Orphanet J Rare Dis. 2015 Feb 8;10(1):13. 10. Decio A, Tonduti D, Pichiecchio A, Vetro A, Ciccone R, Limongelli I, Giorda R, Caffi L, Balottin U, Zuffardi O, Orcesi S. A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events. Am J Med Genet A. 2015 Apr;167(4):810-5. doi: 10.1002/ajmg.a.36907. 11. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; on behalf of the GLIA Consortium. Case definition and classification of leukodystrophies and Zeukoencephalopathies. Mol Genet Metab. 2015 Jan 29. pii: S1096-7192(15)00028-1. doi: 10.1016/j.ymgme.2015.01.006. 12. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Luisa Carpanelli M, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, Piana RL, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, Te Water Naude J, Wee Teik K, Mary Thomas M, Till M, Tonduti D, Maria Valente E, -3- Dr. Davide Tonduti Noel Van Coster R, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb;167(2):296-312. doi: 10.1002/ajmg.a.36887. 13. Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22 14. Vanderver A, Tonduti D, Schiffmann R, Schmidt J, Van der Knaap MS. Leukodystrophy Overview In Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 2014 Feb 06. 15. La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). Am J Med Genet A. 2013 Dec 20. doi: 10.1002/ajmg.a.36360 16. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2013 Dec 20. doi: 10.1002/ajmg.a.36309 17. Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. Tonduti D, Pichiecchio A, Wolf NI, Ariaudo G, van der Knaap MS, Bastianello S, Balottin U, Orcesi S. “Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers“ Neuropediatrics. 2013 Jan 24. [Epub ahead of print] 18. 19. Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. «More Than Hypomyelination in Pol-III Disorder» J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. 20. Tonduti D, Kahn I, Schmidt J,Waldman AT, Medne L, Martin J, Chapman K, Gropman A, Lanpher B, Lourenco C, Orcesi S, Bonnemann C, van der Knaap MS, Vanderver A “Characteristic Brain Magnetic Resonance Imaging Pattern in PTEN associated disorders” Ann Neurol 2012 December 28, 72(S16):S205 21. Tonduti D, Pichiecchio A, La Piana R, Livingston JH, Doherty DA, Majumdar A, Tomkins S, Mine M, Ceroni M, Ricca I, Balottin U, Orcesi S. COL4A1-Related Disease : Raised Creatine Kinase and Cerebral Calcification as Useful Pointers Neuropediatrics. 2012 Aug 29 22. Adeline Vanderver, Davide Tonduti; Sarah Auerbach; Johanna L Schmidt; Sumit Parikh; Gordon C Gowans; Kelly E Jackson; Pamela L Brock; Marc Patterson; Michelle Nehrebecky; Rena Godfrey; Wadih M Zein; William Gahl; Camilo Toro -4- Dr. Davide Tonduti “Neurotransmitter abnormalities and response to supplementation in SPG11” Mol Genet Metab. 2012 Sep;107(1-2):229-33 23. Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L Schmidt, Christin D Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi “MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features” J Child Neurol, J Child Neurol. 2012 Jul 17. J Child Neurol 28(6): 795-800 24. Davide Tonduti, Adeline Vanderver, Ivana Olivieri, Johanna Loewenstein, Elisa Fazzi, Roberta La Piana, Simona Orcesi “Neopterin and Tetrahydrobiopterin Cerebrospinal Fluid Elevations in Aicardi Goutieres Syndrome: Confirmation of Findings in Mutation Confirmed Subjects” Neurology 2012 Aprile, 78(S1) 25. Orcesi S., Tonduti D, La Piana R Calcifying leukoencephalopathies: new overlapping phenotypes Am J Med Genet A. Am J Med Genet A. 2012 Mar 14. 26. Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, TournierLasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification. Neuropediatrics. 2011 Dec;42(6):227-33. Epub 2011 Dec 1 27. Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy. Am J Hum Genet. 2011 Oct 26. 28. Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report. BMC Neurol. 2011 Jul 12;11:85. 29. Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi G, Del Bo R, Ronchi D, Bastianello S, Balottin U. Spinal cord calcification in an earlyprogressive leukoencephalopathy. J Child Neurol. 2011 Jul;26(7):876-80. Epub 2011 Mar 22. 30. Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. Epub 2010 May 26. Erratum in: Neurology. 2010 Aug 10;75(6):576. 31. Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N “Laboratory diagnosis, treatment, and follow-up of 78 patients with aromatic l-amino acid decarboxylase deficiency” J Inherit Metab Dis 2010 Aug 33 (S1): S161-S161 32. Orcesi S, Tonduti D, Uggetti C, Larizza D, Fazzi E, Balottin U. New case of 4H syndrome and a review of the literature. Pediatr Neurol. 2010 May;42(5):359-64. Review. -5- Dr. Davide Tonduti 33. Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N “Diagnosis, outcome, and long-term follow-up of 78 patients with aromatic l-amino acid decarboxylase deficiency: lesson from the international database of pediatric neurotransmitter disorders (JAKE)” Mol Genet Metab 2010 Mar; 99(3):208208 Libri Tonduti D, Vanderver A, Leukodystrophies and Epilepsy. In: Inherited Metabolic Epilepsies, Demos Medical, New York, NY, USA, 2013 Presentazioni orali 1. Tonduti D, Chiapparini L Le necrosi striatali bilaterali, II Corso di formazione sui disordini del movimento, Fondazione Mariani, Torino, 25-27 novembre 2015 2. D Tonduti, A Erbetta, I Moroni, A Ardissone, L Farina, G Zorzi, A Legati, F Zibordi, B Garavaglia, N Nardocci, L Chiapparini Encefalopatie con prominente interessamento del neostriato alla rm (necrosi striatale bilaterale): spettro neuroradiologico, clinico e d eziologico in 40 casi XII Congresso Nazionale AINR di Neuroradiologia Pediatrica, October 2-4 2014, Milano, Italy 3. La Piana, C.Uggetti, A.Vanderver, I.Olivieri, D.Tonduti, U.Balottin, E.Fazzi, Y.J.Crow, J.Livingston, S.Orcesi Neuroradiological findings and patterns in Aicardi-Goutières syndrome 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2013, Montpellier, France 4. Tonduti D, Bova S, Martelli P, Zuffardi O, Parazzini C, Orcesi S and “SVELA-Pediatric Group” “Neonatal deep medullary vein engorgement: the clinical picture of a new nosological entity” 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 5. Renaldo F, Tonduti D, Dorboz I, Masliah-Planchon J, Giraud G, Elmaleh M, Orivoli S, Beraud-Majorel C, Drunat S, Chalard F, Barthez MA, Desguerre I, Quijano-Roy S, Rodriguez D, Boespflug-Tanguy O “Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (Connexine 47) : particularités clinico-radiologiques à propos d’une série de 18 cas” 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 6. S.Olivotto, E.Piazza, D.Tonduti, A.Pichiecchio, U.Balottin, P. Veggiotti “Neurodegenerative disorder with neonatal onset” 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 7. Renaldo F, Tonduti D, Dorboz I, Masliah-Planchon J, Giraud G, Elmaleh M, Orivoli S, Beraud-Majorel C, Drunat S, Chalard F, Barthez MA, Desguerre I, Quijano-Roy S, Rodriguez D, Boespflug-Tanguy O “Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (Connexine 47) : particularités clinico-radiologiques à propos d’une série de 17 cas” 23eme Congrès de la Société Française de Neurologie Pédiatrique, February 23-26 2013, Nancy, France 8. La Piana R, Orcesi S, Uggetti C, Tonduti D, et al. “Spinal cord calcifications: a key finding in a new progressive leukoencephalopathy?” 38ème Réunion de la Société -6- Dr. Davide Tonduti Européenne de Neurologie Pédiatrique (SENP), March 11-13 2010, Genève (SWITZERLAND) 9. S. Orcesi, A. Berardinelli, D. Tonduti, G. Bossi, P. Vitali, S. Bastianello, U. Balottin “Il sospetto di malattia lisosomiale in caso di ritardo motorio nel prima anno di vita”. Patologie da accumulo lisosomiale a coinvolgimento neurologico: nuove prospettive terapeutiche, 28 January 2010, Pavia 10. S. Orcesi, D. Tonduti, S. Malgesini, I. Olivieri, C. Uggetti, D. Larizza, E.Fazzi, U. Balottin. “Hypomyelination with Hypogonadothrope Hypogonadism and Hypodontia and ADDH : the same disorder? A case report”, 36ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP). 14-17 may 2008, Marseille - France Posters 1. Davide Tonduti, Celeste Panteghini, Luisa Chiapparini, Margherita Estienne, Giovanna Zorzi, Barbara Garavaglia, Roberta La Piana Yanick J Crow, Carla Uggetti, Anna Pichiecchio, Simona Orcesi, Isabella Moroni Primary importance of clinical symptoms and radiological abnormalities for the diagnosis of aicardi goutières syndrome 3ème congrès scientifique de la Fondation ELA, Parigi, 23-36 Giugno 2015 2. L. Chiapparini, G. Zorzi , A. Erbetta, D. Tonduti, C. Panteghini, L. Farina, S. Duse, F. Zibordi, B. Garavaglia, V. Tiranti, N. Nardocci Neuroimaging findings in NBIA 4th international symposium on paediatric movement disorders Barcelona, February 19 20, 2015 3. D. Tonduti, C. Panteghini, A. Erbetta, I. Moroni, A. Ardissone, L. Farina, G. Zorzi, A. Legati, D. Ghezzi, E. Lamantea, F. Zibordi, B. Garavaglia, L. Chiapparini, N. Nardocci Bilateral striatal necrosis: neuroradiological, clinical and genetic results in a series of 37 patients 4th international symposium on paediatric movement disorders Barcelona, February 19 - 20, 2015 4. D.Tonduti, G.Zorzi, D.Ghezzi, B.Garavaglia, N.Nardocci CSF neurotransmitter analysis in movement disorders, early onset epileptic encephalopaty and autisic spectrum disorders 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 5. D.Tonduti, A.Ardissone, I.Ceccherini, G.Giaccone, L.Farina, I.Moroni Alexander Disease: More Then Only GFAP Mutation Behind The Phenotype 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 6. Tonduti D, Pichiecchio A, Wolf NI, Ariaudo G, van der Knaap MS, Bastianello S, Balottin U, Orcesi S. “Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers“42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 7. D.Tonduti, A.Decio, A.Pichiecchio, A.Vetro, R.Ciccone, I.Limongelli, R.Giorda, L.Caffi, U.Balottin, O.Zuffardi, S.Orcesi A pediatric case with a new pathogenic mutation in COL4A1 gene: early postnatal onset of vascular events and improving MRI evolution 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 8. R.La Piana, D.Tonduti, C.Uggetti, I.Olivieri, A.Berardinelli, M.Carmela Pera, V.Lucchini, F.Fortunato, M.Moggio, G.P.Comi, U.Balottin, Y.Crow, E.Fazzi, S.Orcesi Infantile -7- Dr. Davide Tonduti bilateral striatal necrosis: if not a mitochondrial disorder,what else? 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 9. Tonduti D, Zorzi G, Ghezzi D, Garavaglia B, Nardocci N, Malattie neurologiche trattabili: diagnosi e terapia dei disturbi primari e secondari del metabolismo delle neuro amine biogene, della tetraidrobiopterina e dei folati Convegno Besta 3.0 May 1214 2014, Milano, Italy 10. D. Tonduti, F. Renaldo, M. Elmaleh, J. Masliah, I. Dorboz, E. Bertini, O. BoespflugTanguy Leucodystrophies Liees A Des Mutations Plp1: Pas Toujours «Hypomyelinisantes Et Diffuses » A L’IRM 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 11. A.Decio, D.Tonduti, A. Pichiecchio, E.Candeloro, M.Mine, U. Balottin, S.Orcesi « Intrafamilial Variability In Col4a1-Related Disorders: The Case Of Two Related Patients » 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 12. M. Cattalini, I. Olivieri, D. Tonduti, R. La Piana, C. Uggetti, E. Fazzi, A. Meini, A. Tincani, D. Moratto, U. Balottin, S. Orcesi “Dysregulation Of The Immune System In Aicardi-Goutières Syndrome: Another Example In Trex1-Mutated Patient” 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy 13. Adeline Vanderver, Johanna Schmidt, Giovanni Carosso, Davide Tonduti, Genevieve Bernard, Jinping Lai, Christopher Rossi, Martha Quezado, Kondi Wong, Raphael Schiffmann. Neuropathology in POL-III related disorders: Myelin loss in 4H syndrome. 62nd American Society of Human Genetics Annual Meeting in San Francisco, California, November 6-10, 2012 14. Tonduti D, Kahn I, Schmidt J,Waldman AT, Medne L, Martin J, Chapman K, Gropman A, Lanpher B, Lourenco C, Orcesi S, Bonnemann C, van der Knaap MS, Vanderver A “Characteristic Brain Magnetic Resonance Imaging Pattern in PTEN associated disorders” 41st Annual Meeting of the Child Neurology Society, Huntington Beach October 31- November 3 2012 15. La Piana R, Tonduti D, Gordish Dressman H, Loewenstein J, Bernard G, Vanderver A “Brain MRI pattern recognition in Pol III-related leukodystrophies “ASNR 50th Annual Meeting & The Foundation of the ASNR Symposium 2012, New York 21-26 April 2012 16. Davide Tonduti, Adeline Vanderver, Ivana Olivieri, Johanna Loewenstein, Elisa Fazzi, Roberta La Piana, Simona Orcesi “Neopterin and Tetrahydrobiopterin cerebrospinal fluid elevations in Aicardi Goutieres Syndrome: confirmation of findings in mutation confirmed subjects” 64th Annual Meeting of the American Academy of Neurology, New Orleans 21-28 April 2012 17. Adeline Vanderver, Davide Tonduti, Sarah Auerbach, Johanna Loewenstein, Sumit Parikh, Gordon C. Gowans, Kelly E. Jackson, Pamela L. Brock, Marc Patterson, Michelle Nehrebecky, Rena Godfrey, Wadih M. Zein, William Gahl, Camilo Toro ”Neurotransmitter abnormalities and response to l-dopa in spg11 64th Annual Meeting of the American Academy of Neurology, New Orleans 21-28 April 2012 18. Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L Schmidt, Christin D Collins, Francesca Novara, Antonia Di Genni, Alda Mita , Fabio Triulzi, Janice E Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi “MCT8 deficiency: early extrapyramidal symptoms and marked delayed myelination as prominent features” 40ème Réunion de la SENP, April19-21, Santiago de Compostela -8- Dr. Davide Tonduti 19. I. Olivieri, M. Cattalini, E. Fazzi, A. Tincani, J. Galli, A. Meini, S. Giliani, D. Tonduti, R. La Piana, U. Balottin, S. Orcesi “Aicardi-Goutières Syndrome: what about autoimmunity” 40ème Réunion de la SENP, April19-21, Santiago de Compostela 20. Zibordi F, Zorzi G, Cavallera V, Tonduti D, Orcesi S, Invernizzi F, Garavaglia B. Nardocci N “Clinical features and etiological spectrum of pediatrci chorea: “Carlo Besta Institute, in Milan case series” Third International Symposium on pediatric movement disorders, Barcellona February 25-26 2011 21. S. Orcesi, D. Tonduti, L. Caffi, C. Uggetti, C. Corbetta, D. Campion, U. Balottin “Early onset extrapyramidal phenotype in Hyperprolinemia type I: a case report” 37ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP) April 2-4 2009, Madrid, SPAIN 22. La Piana R, Orcesi S, Uggetti C, Tonduti D, Fazzi E. Celiac disease in Aicardi-Goutières syndrome: further evidence of the overlap with autoimmune diseases. 38ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), March 11-13 2010, Genève SWITZERLAND Awards and Honors 1. Best Oral Presentation D Tonduti, A Erbetta, I Moroni, A Ardissone, L Farina, G Zorzi, A Legati, F Zibordi, B Garavaglia, N Nardocci, L Chiapparini Encefalopatie con prominente interessamento del neostriato alla rm (necrosi striatale bilaterale): spettro neuroradiologico, clinico e d eziologico in 40 casi XII Congresso Nazionale AINR di Neuroradiologia Pediatrica, October 2-4 2014, Milano, Italy 2. Best Oral Presentation R.La Piana, C.Uggetti, A.Vanderver, I.Olivieri, D.Tonduti, U.Balottin, E.Fazzi, Y.J.Crow, J.Livingston, S.Orcesi Neuroradiological findings and patterns in Aicardi-Goutières syndrome 42ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), September 3-6 2014, Montpellier, France 3. Best Oral Presentation Renaldo F, Tonduti D, Dorboz I, Masliah-Planchon J, Giraud G, Elmaleh M, Orivoli S, Beraud-Majorel C, Drunat S, Chalard F, Barthez MA, Desguerre I, Quijano-Roy S, Rodriguez D, Boespflug-Tanguy O “Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (Connexine 47) : particularités clinico-radiologiques à propos d’une série de 18 cas” 41ème Réunion de la Société Européenne de Neurologie Pédiatrique (SENP), April 18-20 2013, Brescia, Italy Indice H ufficiale (Scopus): 8 Partecipazione a progetti di ricerca e protocolli sperimentali 1. 2012-2016 Partecipazione al progetto delle ricerca corrente “Disturbi del movimento trattabili: diagnosi e terapia dei disordini dei neurotratramsettitori” c/o I.R.C.C.S. Istituto Neurologico Carlo Besta Milano, Italia. 2. Progetto di ricerca europeo (7° programa Quadro FP-7 Project Number: 277984 ) 20142016: TIRCON Treat Iron-Related Childhood-Onset Neurodegeneration 3. “Undetermined leukodystrophies: phenotype and genotype classification” ELA N° 2009007I4; INSERM U676, Paris, France -9- Dr. Davide Tonduti 4. Progetto di ricerca europeo (7° programa Quadro FP-7 Project Number: 241622) 20102012: Therapeutic challenge in Leukodystrophies: Translational and ethical research towards clinical trials 5. Progetto di ricerca SVE-LA (Small VEssel and LA) 2011-2012 : Studio dei fattori genetici associati alla malattia dei piccoli vasi e all’ictus lacunare Progetto finanziato dalla regione Lombardia nell'ambito dei Progetti della ricerca indipendente Decreto DGS13465 del 22/12/2010 6. Progetto di ricerca europeo (7° programa Quadro FP-7 Project Number: 241779) 20102012: Nuclear Immune Mediated Brain and Lupus-like conditions: natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity 7. Due progetti nell' ambito della ricerca corrente 2009-2011 IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino di Pavia -Linea 4; Area A: Prevenzione e diagnosi del danno cerebrale pre-perinatale; sindromi rare ad interessamento neuroftalmologico A)Il follow-up del neonato pretermine: dalla pratica clinica alla definizione di nuove strategie per la diagnosi precoce e la prevenzione delle sequele e per la valutazione delle cure intensive neonatali B)La Sindrome di Aicardi Goutieres e la sindrome di Dravet (Epilessia mioclonica severa dell’ infanzia, SMEI): due esempi paradigmatici di malattie rare ad esordio nel primo anno di vita. Milano, 31.03.2016 - Si autorizza il trattamento dei propri dati personali ai sensi del D. Lgs. n. 196 del 30/06/2003. - Il presente CV ha funzione di autocertificazione ai sensi del D.P.R. n. 445 del 28/12/2000. - 10 -